Variant information


Systematic Name
(NM_004992.3:)		 c.1004_1173delinsCTGTGTAA
Protein name
(NP_004983)		 p.Gly335_Ser486delinsAlaVal
Alternate systematic Name
(NM_001110792.1:)		 c.1040_1209delinsCTGTGTAA
Alternate Protein name
(NP_001104262)		 p.(Gly347_Ser498delinsAlaVal)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 NC_000023.10:g.153296106_153296275delins[NC_000008.10:50305003_50392184inv;TTACACAG]
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1004_1173delinsCTGTGTAA p.Gly335_Ser486delinsAlaVal Female Rett syndrome-classical 7042 :Beskorovainaya,Tatiana -Moscow :: View details